Acrofacial dysostosis, Weyers type

A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.



Input patient's signs and symptoms


Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(60.0%)		 21815252
 Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
Shen W, Han D, Zhang J, Zhao H, Feng H.
Am J Med Genet A. 2011;155A(9):2131-6.
Hypodontia Short ribs
EVC EVC2
c|SUB|A|IVS5-2|G c|SUB|C|2653|T;RS#:779407729|146538906 p|SUB|R|885|X;RS#:146538906 rs146538906
Base Sequence Child China DNA Mutational Analysis Ellis-Van Creveld Syndrome Females Heterozygote Homo sapiens Intercellular Signaling Peptides and Proteins Limb Deformities, Congenital Mutation Polydactyly Proteins Sequence Analysis, DNA Tooth Abnormalities
2
(49.1%)		 6711608
 Brief clinical report: Curry-Hall syndrome.
Shapiro SD, Jorgenson RJ, Salinas CF.
Am J Med Genet. 1984;17(3):579-83.
Conical tooth Polydactyly
Genes, Dominant Homo sapiens Male Nails, Malformed Syndrome Toes Tooth Abnormalities
3
(43.2%)		 15844783
 Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.
Mostafa MI, Temtamy SA, el-Gammal MA, Mazen IM.
Genet Couns. 2005;16(1):75-83.
Short ribs
Adult Child Chromosomes, Human, Pair 4 Ellis-Van Creveld Syndrome Females Gingiva Homo sapiens Male Maxilla Phenotype Tongue Tooth Abnormalities
4
(33.1%)		 9399901
 Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW.
Am J Hum Genet. 1997;61(6):1405-12.
Mild short stature Thoracic dysplasia Postaxial polydactyly
rs753670589
Adult Bone and Bones Chromosomes, Human, Pair 4 DNA Mutational Analysis Dwarfism Ellis-Van Creveld Syndrome Females Genes, Dominant Genes, Recessive Haplotypes Homeodomain Proteins Homo sapiens Infant, Newborn Lod Score MSX1 Transcription Factor Male Nails, Malformed Phenotype Polydactyly Polymerase Chain Reaction Syndrome Tooth Abnormalities Ventricular Septal Defects
5
(31.0%)		 22616035
(3352611)
 Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis.
Shetty DC, Singh HP, Kumar P, Verma C.
J Clin Imaging Sci. 2012;2:18.
Skeletal dysplasia Postaxial polydactyly
5
(31.0%)		 6499270
 Weyers acrodental dysostosis in a family.
Roubicek M, Spranger J.
Clin Genet. 1984;26(6):587-90.
Postaxial polydactyly
Child Females Fingers Homo sapiens Male Toes Tooth Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000190 Abnormal oral frenulum morphology Very frequent (99-80%)
HP:0000668 Hypodontia Very frequent (99-80%)
HP:0000698 Conical tooth Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0001792 Small nail Very frequent (99-80%)
HP:0001800 Hypoplastic toenails Very frequent (99-80%)
HP:0003502 Mild short stature Very frequent (99-80%)
HP:0006288 Advanced eruption of teeth Very frequent (99-80%)
HP:0006315 Single median maxillary incisor Very frequent (99-80%)
HP:0008388 Abnormal toenail morphology Very frequent (99-80%)
HP:0008404 Nail dystrophy Very frequent (99-80%)
HP:0100797 Toenail dysplasia Very frequent (99-80%)
HP:0002006 Facial cleft Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0009738 Abnormality of the antihelix Frequent (79-30%)
HP:0010557 Overlapping fingers Frequent (79-30%)
HP:0200055 Small hand Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0100259 Postaxial polydactyly 3
HP:0003502 Mild short stature 2
HP:0008404 Nail dystrophy 2


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
EVC EvC ciliary complex subunit 1 2121
EVC2 EvC ciliary complex subunit 2 132884